Mutagenetix > Incidental Mutation

Incidental Mutation 'R5122:Igkv10-94'

393342

Institutional Source

Beutler Lab

Gene Symbol

Igkv10-94

Ensembl Gene

ENSMUSG00000096490

Gene Name

immunoglobulin kappa variable 10-94

Synonyms

MMRRC Submission

042710-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.264) question?

Stock #

R5122 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

68681492-68681962 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 68681655 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Stop codon at position 62 (G62*)

Ref Sequence

ENSEMBL: ENSMUSP00000100131 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103330]

AlphaFold

A0A075B5L1

Predicted Effect

probably null
Transcript: ENSMUST00000103330
AA Change: G62*

SMART Domains

Protein: ENSMUSP00000100131
Gene: ENSMUSG00000096490
AA Change: G62*

Domain	Start	End	E-Value	Type
low complexity region	8	13	N/A	INTRINSIC
IGv	38	110	2.11e-20	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	T	C	7: 78,750,409 (GRCm39)	S1727P	probably damaging	Het
Actr8	A	T	14: 29,704,672 (GRCm39)	K57N	possibly damaging	Het
Bcan	G	T	3: 87,901,514 (GRCm39)	S396Y	probably damaging	Het
Bltp1	A	G	3: 37,088,906 (GRCm39)		probably null	Het
Bmp2k	A	G	5: 97,234,874 (GRCm39)		probably benign	Het
Cd274	A	G	19: 29,357,965 (GRCm39)	H219R	possibly damaging	Het
Cdc16	A	T	8: 13,814,570 (GRCm39)	Y118F	probably damaging	Het
Cdc23	C	A	18: 34,784,742 (GRCm39)	V7L	unknown	Het
Chchd3	T	C	6: 32,945,240 (GRCm39)	R89G	probably benign	Het
Clstn2	C	T	9: 97,343,474 (GRCm39)	V658M	probably damaging	Het
Cpt1b	A	G	15: 89,308,226 (GRCm39)	S160P	probably benign	Het
Crym	T	C	7: 119,794,718 (GRCm39)	N167S	probably benign	Het
Dhx16	T	A	17: 36,194,202 (GRCm39)	Y438N	probably damaging	Het
Dnah12	A	G	14: 26,439,155 (GRCm39)	R536G	probably benign	Het
Dnajc11	A	G	4: 152,061,454 (GRCm39)	D382G	possibly damaging	Het
Dync1h1	G	A	12: 110,596,114 (GRCm39)	G1547D	probably damaging	Het
Eml3	T	A	19: 8,915,060 (GRCm39)		probably null	Het
Ep400	G	A	5: 110,816,036 (GRCm39)	P2799S	probably damaging	Het
Ephb6	T	C	6: 41,590,338 (GRCm39)	V30A	probably benign	Het
Fam53b	T	A	7: 132,380,991 (GRCm39)		probably benign	Het
Fcrl1	A	G	3: 87,293,081 (GRCm39)	K246R	probably benign	Het
Focad	G	A	4: 88,325,602 (GRCm39)		probably null	Het
Glipr1l2	T	C	10: 111,942,961 (GRCm39)	I272T	possibly damaging	Het
Gm8104	A	G	14: 42,966,550 (GRCm39)	I101V	probably benign	Het
Grm5	A	G	7: 87,724,028 (GRCm39)	I773V	probably damaging	Het
Hyal1	A	T	9: 107,455,268 (GRCm39)	T193S	probably benign	Het
Itsn1	A	G	16: 91,690,732 (GRCm39)		probably benign	Het
Kank4	A	G	4: 98,644,804 (GRCm39)	S983P	probably damaging	Het
Krtap16-1	C	A	11: 99,876,523 (GRCm39)	V294F	probably damaging	Het
Lama3	T	G	18: 12,672,823 (GRCm39)	V866G	possibly damaging	Het
Lrba	C	T	3: 86,256,461 (GRCm39)	R1268*	probably null	Het
Lrriq1	C	T	10: 103,023,314 (GRCm39)	V984I	probably damaging	Het
Macf1	A	C	4: 123,346,085 (GRCm39)	V4136G	probably damaging	Het
Mdn1	A	T	4: 32,670,593 (GRCm39)	E419D	probably damaging	Het
Nedd4l	A	G	18: 65,324,518 (GRCm39)	Y473C	probably damaging	Het
Nod2	G	T	8: 89,390,748 (GRCm39)	D330Y	probably damaging	Het
Nt5c2	C	T	19: 46,878,360 (GRCm39)	C458Y	probably damaging	Het
Numa1	T	C	7: 101,662,976 (GRCm39)	I681T	probably damaging	Het
Or10a5	C	A	7: 106,636,055 (GRCm39)	S231*	probably null	Het
Papolg	C	T	11: 23,817,501 (GRCm39)		probably null	Het
Parn	A	G	16: 13,472,311 (GRCm39)		probably null	Het
Pgap2	T	C	7: 101,880,598 (GRCm39)	F42S	probably damaging	Het
Phf11d	A	T	14: 59,590,793 (GRCm39)	M188K	possibly damaging	Het
Pofut2	G	C	10: 77,104,399 (GRCm39)	R392P	probably damaging	Het
Prpf18	T	C	2: 4,648,520 (GRCm39)	D102G	probably damaging	Het
Rreb1	T	A	13: 38,114,744 (GRCm39)	I701N	probably benign	Het
Slc26a5	T	C	5: 22,052,194 (GRCm39)	K45R	probably damaging	Het
Slc8a3	A	G	12: 81,361,032 (GRCm39)		probably null	Het
Slf1	T	A	13: 77,198,106 (GRCm39)	M723L	probably benign	Het
Spata31e5	A	G	1: 28,819,141 (GRCm39)	S47P	probably benign	Het
Sra1	T	C	18: 36,800,647 (GRCm39)	T187A	probably benign	Het
Stk17b	A	C	1: 53,815,717 (GRCm39)	N27K	probably damaging	Het
Tbc1d9	T	A	8: 83,963,172 (GRCm39)	Y295N	probably damaging	Het
Tubgcp6	A	G	15: 89,000,306 (GRCm39)	V353A	probably damaging	Het
Unc80	A	T	1: 66,718,749 (GRCm39)	T2991S	possibly damaging	Het
Urb1	G	A	16: 90,548,983 (GRCm39)	R2242*	probably null	Het
Vasp	T	C	7: 18,998,697 (GRCm39)	N20S	probably benign	Het
Zfp263	A	G	16: 3,567,719 (GRCm39)	H390R	probably damaging	Het

Other mutations in Igkv10-94

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02004:Igkv10-94	APN	6	68,681,928 (GRCm39)	nonsense	probably null
R1299:Igkv10-94	UTSW	6	68,681,482 (GRCm39)	unclassified	probably benign
R2433:Igkv10-94	UTSW	6	68,681,559 (GRCm39)	missense	probably benign	0.29
R5292:Igkv10-94	UTSW	6	68,681,582 (GRCm39)	missense	probably damaging	0.99
R6540:Igkv10-94	UTSW	6	68,681,507 (GRCm39)	missense	probably benign	0.00
R7135:Igkv10-94	UTSW	6	68,681,727 (GRCm39)	missense	possibly damaging	0.70
R7872:Igkv10-94	UTSW	6	68,681,913 (GRCm39)	critical splice donor site	probably benign
R7965:Igkv10-94	UTSW	6	68,681,595 (GRCm39)	missense	probably damaging	1.00
R8558:Igkv10-94	UTSW	6	68,681,636 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACACTTCTGCTTTCATGGAGG -3'
(R):5'- CTGGCATTTTGAAGGGGTCC -3'

Sequencing Primer
(F):5'- ATGACTTATATCATTGTGGGAGGAAG -3'
(R):5'- GAAGGGGTCCTTTCTTTTCCTGC -3'

Posted On

2016-06-15